Canonical Allele Identifier: CA446330110

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 2797749
• ClinVar RCV Id: RCV003616136
• MyVariant Identifiers: chr5:g.131721042A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385350A>C , CM000667.2:g.132385350A>C	GRCh38
NC_000005.9:g.131721042A>C , CM000667.1:g.131721042A>C	GRCh37
NC_000005.8:g.131748941A>C	NCBI36
NG_008982.1:g.20642A>C
NG_008982.2:g.20647A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1036A>C	ENSP00000388838.2:n.665+1036A>C
ENST00000435065.7:c.747A>C	ENSP00000402760.2:p.Ser249=
ENST00000448810.6:c.675A>C	ENSP00000401860.2:p.Ser225=
ENST00000686757.1:c.694A>C	ENSP00000510721.1:p.Ser232Arg
ENST00000687740.1:n.1835A>C
ENST00000688151.1:n.1867A>C
ENST00000689271.1:c.671+1030A>C	ENSP00000510797.1:n.671+1030A>C
ENST00000690900.1:c.672-26A>C	ENSP00000510703.1:n.672-26A>C
ENST00000692212.1:n.501A>C
ENST00000692355.1:c.204+1049A>C
ENST00000692413.1:c.694A>C	ENSP00000509374.1:p.Ser232Arg
ENST00000692825.1:c.743A>C	ENSP00000509447.1:n.743A>C
ENST00000693308.1:c.688A>C	ENSP00000509770.1:p.Ser230Arg
ENST00000693763.1:n.1835A>C
ENST00000245407.8:c.675A>C MANE Select	ENSP00000245407.3:p.Ser225=
ENST00000245407.7:c.675A>C	ENSP00000245407.3:p.Ser225=
ENST00000415928.5:c.444A>C	ENSP00000388838.1:p.Ser148=
ENST00000435065.6:c.747A>C	ENSP00000402760.2:p.Ser249=
ENST00000437841.6:c.416A>C	ENSP00000400553.1:p.Gln139Pro
ENST00000448810.5:c.23A>C
ENST00000461013.5:n.8097A>C
NM_001308122.1:c.747A>C	NP_001295051.1:p.Ser249=
NM_003060.3:c.675A>C	NP_003051.1:p.Ser225=
XM_011543590.1:c.57A>C	XP_011541892.1:p.Ser19=
XR_427718.1:n.1035A>C
XR_948290.1:n.1016A>C
XR_948291.1:n.1029A>C
XM_011543590.2:c.57A>C	XP_011541892.1:p.Ser19=
XM_017009778.2:c.147A>C	XP_016865267.1:p.Ser49=
XR_001742215.1:n.1016A>C
XR_001742216.1:n.1035A>C
XR_427718.2:n.1035A>C
XR_948290.2:n.1016A>C
XR_948291.2:n.1029A>C
NM_003060.4:c.675A>C MANE Select	NP_003051.1:p.Ser225=
NM_001308122.2:c.747A>C	NP_001295051.1:p.Ser249=